Familial Hypercholesterolemia
Familial Hypercholesterolemia
Familial Hypercholesterolemia
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Rapid & Reliable Genetic Assessment
Genetic Assessment of Patients with Suspected Familial Hypercholesterolemia (FH)
- Early diagnosis of specific mutations reducing morbidity and mortality from premature CVD ensuring better outcomes & therapeutic intervention
- Saving time & costs by reducing the number of traditional clinical & genetic tests
- Combination of multiplex PCR and Biochip to distinguish between multiple wildtype and mutant DNA regions
- Cascade screening can be performed across both FH arrays to further improve diagnosis
- Provides information on the phenotype and prognosis which cannot be identified through traditional lipid level testing
- Suitable for use on the Evidence Investigator, a semi-automated analyser identifying FH in under 3 hours
The Familial Hypercholesterolemia (FH) Arrays I & II are rapid, simple and accurate diagnostic tests which enable simultaneous detection of 40 FH-causing mutations (20 mutations per array) within the low-density lipoprotein receptor (LDLR), apo‑lipoprotein B (ApoB) and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. Generally, mutations within the LDLR gene are the most common, with a prevalence of 1 in 500. The ApoB gene has a prevalence of 1 in 1000 and the PCSK9 gene less than 1 in 2500.
FH patients have elevated levels of total cholesterol (TC) and LDL-C from birth and, if untreated, develop coronary heart disease (CHD). FH is characterised by twice normal LDL-C levels in early childhood, and early myocardial infarction. A strong positive family history can imply as much as a 12-fold increased risk of early coronary disease.
Randox Familial Hypercholesterolemia Arrays
| ApoB | |
| Mutation | Protein |
| c.10580G>A | p.(Arg3527Gln) |
| LDLR | |
| Mutation | Protein |
| c.2292delA | p.(Ile764Metfs*2) |
| c.1444G>A | p.(Asp482Asn) |
| c.551G>A | p.(Cys184Tyr) |
| c.1845+11C>G | p.(=) |
| c.693C>A | p.(Cys231*) |
| c.933delA | p.(Glu312Serfs*58) |
| c.301G>A | p.(Glu101Lys) |
| c.313+1G>A | p.(=) |
| c.1706-1G>A | p.(=) |
| c.1706-1G>A | p.(Cys677Arg) |
| c.2029T>C | p.(Pro685Leu) |
| c.2054C>T | p.(Trp483Arg) |
| c.1447T>C | p.(Gly478Arg) |
| c.1447T>C | p.(Asp72Thrfs*134) |
| c.214delG | p.(Trp87Gly) |
| c.259T>G | p.(Arg633Cys) |
| c.1897C>T | p.(Asp227Glu) |
| c.681C>G | p.(Asn688Glnfs*29) |
| PCSK9 | |
| Mutation | Protein |
| c.1120G>T | p.(Asp374Tyr) |
| LDLR | |
| Mutation | Protein |
| c.1285G>A | p.(Val429Met) |
| c.680_681delAC | p.(Asp227Glyfs*12) |
| c.1187-10G>A | p.(=) |
| c.1048C>T | p.(Arg350*) |
| c.118delA | p.(Ile40Serfs*166) |
| c.1168A>T | p.(Lys390*) |
| c.232C>T | p.(Arg78Cys) |
| c.1587-1G>A | p.(=) |
| c.1706-10G>A | p.(=) |
| c.1796T>C | p.(Leu599Ser) |
| c.1436T>C | p.(Leu479Pro) |
| c.1474G>A | p.(Asp492Asn) |
| c.501C>A | p.(Cys167*) |
| c.662A>G | p.(Asp221Giy) |
| c.682G>T | p.(Glu228*) |
| c.1150C>T | p.(Gln384*) |
| c.938G>A | p.(Cys313Tyr) |
| c.136T>G | p.(Cys46Gly) |
| c.2042G>C | p.(Cys681Ser) |
| c.1618G>A | p.(Ala540Thr) |
The Evidence Investigator
Meet the Evidence Investigator
The Randox FH arrays has been developed for the Evidence Investigator, a semi-automated benchtop immunoassay analyser.
The FH arrays would provide an early diagnosis of specific mutations, reduce morbidity and mortality from premature CVD ensuring better patient outcomes & therapeutic intervention.
Want to know more?
Contact us or visit our Investigator Webpage
Randox Biosciences on Familial Hypercholesterolemia (FH)
What is Familial Hypercholesterolemia?
Familial Hypercholesterolemia (FH) is a genetic condition which is passed down from the parents’ genes. The British Heart Foundation has highlighted that FH is caused by a genetic mutation which means the liver is unable to remove excess ‘bad’ cholesterol (LDL), therefore, the LDL level in the blood remains high.2 Someone who suffers with FH would have high cholesterol from birth which can cause other health issues including heart and circulatory disease.
Heart UK states that more than 260,000 people in the UK may have FH. However, less than 10% of this number have been diagnosed and therefore, may not be aware of their condition.3 However, to date there are no clear symptoms if someone has FH until it is considered too late.
Familial Hypercholesterolemia (FH) symptoms
- Swollen tendons/fatty lumps on the knuckles of your hands, at the back of your ankles and knees
- Cholesterol deposits around the eye-lids (looks like pale and yellowish patches)
- Grey-white cholesterol deposits around the corneas
If untreated, about 50% of men and 30% of women with FH will develop coronary heart disease by the time they are 55. More worryingly, on average in the UK, one person a day with FH has a heart attack. About a third of people don’t survive their first heart attack, and many who do survive will have damaged hearts.
The good news is that a 2008 study part-funded by the BHF found that people with FH who are diagnosed and treated before they develop heart disease generally live as long as people who don’t have FH. That’s why it is vitally important to get diagnosed as early as possible.
How Randox Biosciences can help
Randox Biosciences offers the Familial Hypercholesterolemia (FH) Arrays I & II to help encourage early diagnosis with rapid turnaround time. This allows results to be reported within days compared with NHS waiting lists which can be substantially longer.
Our two arrays are rapid, simple and accurate which enables the simultaneous detection of 40 FH-causing mutations (20 mutations per array) within the LDLR, ApoB and PCSK9 genes.
The mutational status can be determined rapidly from a single test, with a reduced need for confirmatory testing. Genetic analysis for FH mutations also allows for more accurate diagnosis compared to lipid profiling.
Familial Hypercholesterolemia (FH) Arrays I & II:
LDLR – 38 mutations
APOB – 1 mutation
PCSK9 – 1 mutation
Contact us
To find out more about the products that we offer, email us info@randoxbiosciences.com
Randox Biosciences and Familial Hypercholesterolemia (FH)
Familial Hypercholesterolemia (FH) is a genetic disorder where the child is born with extremely high cholesterol levels. FH can trace back through several generations. Cholesterol is vital for the normal function of the human body therefore, it is important to ensure the cholesterol levels don’t get too high because it can result in early onset cardiovascular disease. 1
The FH Foundation states an interesting fact that 1 in 250 people worldwide have FH and over 90% of these people have not been properly diagnosed 2. Majority of these people won’t know they have FH disease until they have a heart attack!
However, there are no clear symptoms if someone has FH until it is too late and the damage has been done. The warning signs include the following:1
- Swollen tendons/fatty lumps on the knuckles of your hands, at the back of your ankles and knees
- Cholesterol deposits around the eye-lids (looks like pale and yellowish patches)
- Gray-white cholesterol deposits around the corneas
A study in 2008 by the British Heart Foundation found that people with FH who are diagnosed and treated before they develop heart disease live as long people who don’t have FH 4. This theory emphasis the importance of getting early diagnosis to prevent long-term problems. Treatment to prevent cardiovascular disease involves taking medication prescribed by the doctor and making lifestyle changes including; modifying diet, increasing exercise, quit smoking, decrease drinking alcohol and ensure the patient gets regular sleep.
Randox offers the Familial Hypercholesterolemia (FH) Arrays I & II to help encourage early diagnosis with rapid turnaround time allowing results to be reported within days compared to NHS waiting lists which can be substantially longer. The two arrays are rapid, simple and accurate which enables the simultaneous detection of 40 FH-causing mutations (20 mutations per array) within the LDLR, ApoB and PCSK9 genes. The mutational status can be determined rapidly from a single test, with a reduced need for confirmatory testing with NGS. The genetic analysis for FH mutations allows for more accurate diagnosis compared to lipid profiling.
Randox can help using the award-winning Biochip Analyser to achieve early and appropriate treatment for those with FH resulting those to adopt a healthier lifestyle and taking cholesterol-lowering medication, risk of heart disease to live a longer and healthy life!
Familial Hypercholesterolemia (FH) Arrays I & II:
- LDLR – 38 mutations
- APOB – 1 mutation
- PCSK9 – 1 mutation
To find out more about the products that we offer email us info@randoxbiosciences.com
Reference:
https://www.healthline.com/health/familial-hypercholesterolemia#symptoms
National Cholesterol Month: Protect your family from early heart disease
Have you heard of familial hypercholesterolemia (FH)?
A common disorder that is passed from parents to their children, FH is often called the ‘silent killer’ as it is characterised by dangerously high levels of cholesterol, leading to early onset cardiovascular disease.
The good news is that if diagnosed, FH can be effectively treated. The even better news this National Cholesterol Month is that a rapid and accurate diagnostic test for FH, developed by Randox Laboratories, has made diagnosis across the UK much simpler.
The prevalence of FH
Thousands of families in the UK are affected by FH, as not only is heart disease the number one killer across the globe, there is a 50:50 chance that a parent with FH will pass it onto their children. The condition can lead to higher risk of a heart attack in men before the age of 50, or before the age of 60 in women.
A common disease, at least 1 in every 500 people in the UK are living with FH, although new international research suggests that 1 in every 200 people could be affected, which would mean as many as 300,000 people in the UK. Worryingly, it is substantially underdiagnosed and less than 12% of people with FH in the UK are aware that they have this potentially life-threatening condition.
Testing for FH
The current recommended screening techniques for Familial Hypercholesterolemia are costly and time consuming, limiting the number of individuals who benefit from a timely diagnosis. Under NHS guidelines, when a person is found to have FH, their closest blood relatives should get tested too – including children before the age of 10.
The Randox FH test, developed in partnership with the Belfast Health and Social Care Trust, enables detection of the 40 most common genetic mutations that cause FH in the UK, with results available in just three hours, and a definitive diagnosis within one day.
With early and appropriate treatment, such as adopting a healthy lifestyle and taking cholesterol-lowering medication, risk of heart disease can be significantly reduced so that someone with FH can live as long as a person who doesn’t have the condition.
Professor John Chapman, Past- President of the European Atherosclerosis Society, which promotes study into the causes of accelerated atherosclerosis and cardiovascular disease, has welcomed the Randox test for suspected cases of FH:
“FH is a serious condition for those with a family history of accelerated atherosclerosis and premature cardiovascular disease. With this information, preventative measures including diet, lifestyle and lipid lowering drugs can be successfully introduced. Indeed, early identification and prevention can significantly benefit all family members potentially with this condition. In fact, we are entering an exciting time in the treatment of those with cardiovascular disease as new and highly effective drugs for lipid management are becoming available.”
The test, which is available through Randox Health Clinics, has been adopted by medical professionals within the NHS, including Dr. Colin Graham, recently retired Consultant Clinical Scientist and former Head of the Regional Genetics Lab in the Belfast Health and Social Care Trust, who introduced the test within his Belfast Laboratory screen for suspected cases of FH:
“The launch of this new clinically available test is a key milestone in the detection and diagnosis of FH. Current FH diagnostic tests require a large volume of samples to be batched, leading to lengthy turnaround times of two to three months. With the new test, the turnaround time is dramatically reduced, enabling more rapid patient diagnosis.”
Dr. Graham also highlighted the importance of improving detection rates through the screening of wider patient populations:
“This new test has the potential to enable FH screening to become routine in the clinical setting for improved detection and earlier identification of familial cases.”
Dr. Peter FitzGerald, Managing Director of Randox Laboratories said:
“In the battle against cardiovascular disease, people with FH are on the front line. On World Heart Day it is important to raise awareness of FH as many people do not even know that they and their family members have this life-threatening condition. There is so much that can be done to support families with FH and with this readily available and much-needed test, detecting and treating entire families with FH is now possible.”
For more information please contact the Randox PR team by email: randoxpr@randox.com, or by phoning 028 9442 2413
Take control of your heart health with Randox
Your heart is amazing. Not only is it your most critical organ but also one of the most hard-working. The average adult heart beats around 100,000 times a day, acting as a giant pump for all the blood in your body. Indeed, every day your heart pumps over nine litres of blood through a system of blood vessels over 60,000 miles long – it’s little wonder, then, the importance placed on looking after such a vital muscle.
The heart works 24/7, only taking a rest when you sleep with the natural drop of heart rate and blood pressure. Over time, and influenced by lifestyle choices, the heart grows weaker, needing to work harder to fulfil its function. Crucial lifestyle changes now could limit your risk of developing serious cardiac conditions, such as Cardiovascular Disease (CVD) in the future. Factors which can contribute to your CVD risk include genes inherited from parents or grandparents, smoking, an unhealthy diet, excessive alcohol consumption and low physical activity levels.
You can’t change your DNA, but you can find out what it means to you and your family. One of our advanced tests can identify people living with a common but often hidden disorder – Familial Hypercholesterolemia (FH). Fewer than 12% of people in the UK know they have this potentially fatal condition. It is characterised by dangerously high levels of cholesterol which can lead to early onset cardiovascular disease.
While lifestyle changes may help to limit your risk of CVD, and related heart condition, it is impossible to eradicate it completely for everyone. Accounting for 31% of deaths worldwide, CVD is the number one cause of death globally but early screening could lower this figure significantly. That’s why it’s vitally important to detect CVD early before a coronary event like a heart attack occurs.
Today in the UK, 530 people will go to the hospital with a suspected heart attack. Only a fifth of these people will actually be having a heart attack. According to a team from King’s College London, as reported by the BBC, a faster, more accurate diagnosis of whether chest pain is caused by a heart attack would save the health service millions of pounds each year by sending well patients home and freeing up beds. Yet current testing methods do not efficiently differentiate between high-risk patients and the estimated 80% of patients who are not having a heart attack.
Randox’s revolutionary test for Heart-Type Fatty Acid-Binding Protein (H-FABP), when combined with current testing, is able to rule out a heart attack for patients who present at A&E with chest pain which is caused by other conditions such as respiratory issues, meaning they may not need emergency admission.
When measured at the time a patient presents to A&E with chest pain, H-FABP enables doctors to triage patients suffering with a heart attack more efficiently than before, making sure those at high-risk are given medical intervention earlier.
Early screening in the form of a comprehensive health check is essential to detect cardiac irregularities before they become serious problems. Heart damage builds up over time, meaning that when detected early enough, lifestyle changes can help to reduce cardiac risk and potentially even prevent a cardiac event occurring.
Therefore, it is vitally important that individuals are tested for CVD to detect them in the earliest stages to reduce damage, prevent further damage, or even death. Furthermore, many people suffer from inherited cardiac risk factors, which stresses the need for accurate testing.
Randox offer the complete laboratory solution to cardiac risk assessment information to doctors and hospitals, and also directly to the public at Randox Health. Our range of both traditional and novel cardiac risk biomarkers, along with our technologically-advanced range of analysers, serves to allow us to offer the most advanced, most accurate health check available on the planet.
As well as your cardiovascular risk score, a Randox Health check will also assess your cholesterol levels, FH risk, triglycerides, creative kinase, myoglobin, troponin levels and many more heart health indicators. In total, a Randox Health check can assess up to 350 different markers of irregularity or disease in the whole body, from heart to hormone health and skin to stomach.
Many serious future health issues are preventable now with action. Find out more about our health check programmes here.
About Randox Health
Randox Health is a global leader in healthcare diagnostics; today more than 5% of the world’s population – in excess of 370 million people across 145 countries – receives medical diagnosis using Randox products each year.
After investing over £220 million in the invention and production of revolutionary blood-science technology, a single Randox Health check will deliver a complete picture of your health – as it is now and, crucially, how it is likely to develop in the future.
Randox Health has proven that signs of disease or irregularity can be caught at their earliest stage. This means that, with early action, some cases of illness can even be prevented altogether. Our health checks include, but are not limited to, cancer surveillance, fertility monitoring, heart health, nutrition, digestive and diabetes health.
In other words, from one health check, you’ll receive up to 350 results and afterwards avail of expert advice from the Randox scientists or a Randox Health GP. Not only that, but a complete 12-month programme and repeat testing come as standard so you can have full confidence that you are really taking care of yourself.
Find out more information about Randox Health checks here: https://www.randoxhealth.com/our-packages/
RX Series
Randox has developed the RX series range of clinical chemistry analysers for high-quality semi-automated and fully automated testing. Choose between the RX misano, RX monaco, RX daytona+, RX imola, and the RX modena depending on the throughput of your laboratory. The RX series offers a suitable analyser for your laboratory’s needs. For more information on the Randox RX series, please click here or email therxseries@randox.com
Reagents
Randox offers an extensive range of third party diagnostic reagents which are internationally recognised as being of the highest quality; producing accurate and precise results. We have the largest test menu of 118 assays, covering over 100 disease markers including specific proteins, lipids, therapeutic drug monitoring, drugs of abuse, antioxidants, coagulation, diabetes and veterinary testing. A wide range of formats and methods are available providing greater flexibility and choice for any laboratory size. In addition to flexible pack sizes and a comprehensive list of analyser applications, we can also provide dedicated reagent packs (Randox Easy Read and Easy Fit regents) for a wide range of chemistry analysers providing you with freedom of choice from an independent manufacturer.
For more information on Randox Reagents, please click here or email reagents@randox.com
Acusera – Internal Quality Control
The Acusera cardiac controls have been designed to cover a wide range of cardiac markers at clinical decision levels, eliminating the extra expense of an additional low level control. The controls are available in a both liquid ready-to-use and lyophilized formats making them ideal for all situations and manufactured from 100% human serum a matrix similar to that of the patient is guaranteed. For more information on the Randox Acusera internal quality control, please click here or email acusera@randox.com
RIQAS – External Quality Control
The RIQAS Liquid Cardiac EQA programme is designed to monitor the performance of up to 9clinically significant cardiac markers including: CK-MB mass, D-dimer, Digoxin, homocysteine, hsCRP, myoglobin, NT proBNP, troponin I, and troponin T. RIQAS is ISO/IEC 17043 accredited and allows the registration of up to five instruments at no extra cost. All samples are 100% human serum and provided in a liquid ready-to-use format for enhanced convenience. Submit your results bi-weekly and view reports online via RIQAS.Net. For more information on RIQAS, the world’s largest international EQA scheme, please click here or email acusera@randox.com
For further information, please contact the Randox PR team via email: randoxpr@randox.com or phone 028 9442 2413
Protect your family from early heart disease with a simple blood test
On World Heart Day 2015, Randox Laboratories unveiled a rapid, highly accurate diagnostic test to identify individuals with familial hypercholesterolemia (FH), a common disorder that is passed from parents to their children. FH is often called the ‘silent killer’ as it is characterised by dangerously high levels of cholesterol, leading to early onset cardiovascular disease. The good news is that if diagnosed, FH can be effectively treated; the even better news this National Cholesterol Month is that this new test has made diagnosis across the UK much simpler.
Thousands of families in the UK are affected by FH, as not only is heart disease the number one killer across the globe, there is a 50:50 chance that a parent with FH will pass it onto their children. The condition can lead to higher risk of a heart attack in men before the age of 50, or before the age of 60 in women.
A common disease, at least 1 in every 500 people in the UK are living with FH, although new international research suggests that 1 in every 200 people could be affected, which would mean as many as 300,000 people in the UK. Worryingly, it is substantially underdiagnosed and less than 12% of people with FH in the UK are aware that they have this potentially life-threatening condition.
The current recommended screening techniques are costly and time consuming, limiting the number of individuals who benefit from a timely diagnosis. Under NHS guidelines, when a person is found to have FH, their closest blood relatives should get tested too – including children before the age of 10. The new test allows definitive diagnosis within one day, rather than the usual weeks or even months for current tests, removing unnecessary anxiety and allowing people to take immediate action before it’s too late.
The new molecular test that has been developed by Randox Laboratories in Crumlin, Northern Ireland, in partnership with the Belfast Health and Social Care Trust, enables detection of the 40 most common genetic mutations that cause FH in the UK, with results available in just three hours. With early and appropriate treatment, such as adopting a healthy lifestyle and taking cholesterol-lowering medication, risk of heart disease can be significantly reduced so that someone with FH can live as long as a person who doesn’t have the condition.
Professor John Chapman, Past- President of the European Atherosclerosis Society, which promotes study into the causes of accelerated atherosclerosis and cardiovascular disease, has welcomed the new test for suspected cases of FH:
“FH is a serious condition for those with a family history of accelerated atherosclerosis and premature cardiovascular disease. With this information, preventative measures including diet, lifestyle and lipid lowering drugs can be successfully introduced. Indeed, early identification and prevention can significantly benefit all family members potentially with this condition. In fact, we are entering an exciting time in the treatment of those with cardiovascular disease as new and highly effective drugs for lipid management are becoming available.”
The test, which is available through Randox Health Clinics, has been adopted by medical professionals within the NHS, including Dr. Colin Graham, recently retired Consultant Clinical Scientist and former Head of the Regional Genetics Lab in the Belfast Health and Social Care Trust, who introduced the test within his Belfast Laboratory screen for suspected cases of FH:
“The launch of this new clinically available test is a key milestone in the detection and diagnosis of FH. Current FH diagnostic tests require a large volume of samples to be batched, leading to lengthy turnaround times of two to three months. With the new test, the turnaround time is dramatically reduced, enabling more rapid patient diagnosis.”
Dr. Graham also highlighted the importance of improving detection rates through the screening of wider patient populations:
“This new test has the potential to enable FH screening to become routine in the clinical setting for improved detection and earlier identification of familial cases.”
Dr. Peter FitzGerald, Managing Director of Randox Laboratories said:
“In the battle against cardiovascular disease, people with FH are on the front line. On World Heart Day it is important to raise awareness of FH as many people do not even know that they and their family members have this life-threatening condition. There is so much that can be done to support families with FH and with this readily available and much-needed test, detecting and treating entire families with FH is now possible.”
For more information please contact our Randox Comms Team:
Email: amy.mcilwaine@randox.com
Tel: 028 9445 1016
